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Journal Abstract Search

198 related items for PubMed ID: 38017287

  • 1. AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells.
    Yoshioka Y, Taniguchi JB, Homma H, Tamura T, Fujita K, Inotsume M, Tagawa K, Misawa K, Matsumoto N, Nakagawa M, Inoue H, Tanaka H, Okazawa H.
    Commun Med (Lond); 2023 Nov 28; 3(1):170. PubMed ID: 38017287
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  • 2. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T, Garcia CA, Reiter LT, Lupski JR.
    Medicine (Baltimore); 1996 Sep 28; 75(5):233-50. PubMed ID: 8862346
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  • 3. PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
    Prior R, Silva A, Vangansewinkel T, Idkowiak J, Tharkeshwar AK, Hellings TP, Michailidou I, Vreijling J, Loos M, Koopmans B, Vlek N, Agaser C, Kuipers TB, Michiels C, Rossaert E, Verschoren S, Vermeire W, de Laat V, Dehairs J, Eggermont K, van den Biggelaar D, Bademosi AT, Meunier FA, vandeVen M, Van Damme P, Mei H, Swinnen JV, Lambrichts I, Baas F, Fluiter K, Wolfs E, Van Den Bosch L.
    Brain; 2024 Sep 03; 147(9):3113-3130. PubMed ID: 38743588
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  • 4. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs.
    Hanemann CO, Gabreëls-Festen AA, Stoll G, Müller HW.
    Acta Neuropathol; 1997 Oct 03; 94(4):310-5. PubMed ID: 9341930
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  • 6. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.
    Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW.
    J Neurosci Res; 1994 Apr 01; 37(5):654-9. PubMed ID: 8028042
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  • 8. A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A.
    Ha N, Choi YI, Jung N, Song JY, Bae DK, Kim MC, Lee YJ, Song H, Kwak G, Jeong S, Park S, Nam SH, Jung SC, Choi BO.
    Br J Pharmacol; 2020 Nov 01; 177(22):5096-5113. PubMed ID: 33460073
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  • 9. Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.
    Liu X, Ishikawa KI, Hattori N, Akamatsu W.
    Stem Cell Res; 2024 Jun 01; 77():103401. PubMed ID: 38537501
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  • 13. Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy.
    Chumakov I, Milet A, Cholet N, Primas G, Boucard A, Pereira Y, Graudens E, Mandel J, Laffaire J, Foucquier J, Glibert F, Bertrand V, Nave KA, Sereda MW, Vial E, Guedj M, Hajj R, Nabirotchkin S, Cohen D.
    Orphanet J Rare Dis; 2014 Dec 10; 9():201. PubMed ID: 25491744
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  • 14. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A.
    Haney C, Snipes GJ, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD.
    J Neuropathol Exp Neurol; 1996 Mar 10; 55(3):290-9. PubMed ID: 8786387
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  • 15. Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
    Van Lent J, Vendredy L, Adriaenssens E, Da Silva Authier T, Asselbergh B, Kaji M, Weckhuysen S, Van Den Bosch L, Baets J, Timmerman V.
    Brain; 2023 Jul 03; 146(7):2885-2896. PubMed ID: 36511878
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  • 16. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
    Roa BB, Garcia CA, Lupski JR.
    Int J Neurol; 2023 Jul 03; 25-26():97-107. PubMed ID: 11980069
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  • 17. AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A.
    Gautier B, Hajjar H, Soares S, Berthelot J, Deck M, Abbou S, Campbell G, Ceprian M, Gonzalez S, Fovet CM, Schütza V, Jouvenel A, Rivat C, Zerah M, François V, Le Guiner C, Aubourg P, Fledrich R, Tricaud N.
    Nat Commun; 2021 Apr 21; 12(1):2356. PubMed ID: 33883545
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  • 18. Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages.
    Hanemann CO, Gabreëls-Fasten AA, Müller HW, Stoll G.
    Brain; 1996 Oct 21; 119 ( Pt 5)():1461-9. PubMed ID: 8931571
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  • 19. Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A.
    Sancho S, Young P, Suter U.
    Brain; 2001 Nov 21; 124(Pt 11):2177-87. PubMed ID: 11673320
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